P12S (p.Pro12Ser) variant of KMT2C (Q8NEZ4)
P12S (p.Pro12Ser) in KMT2C (Q8NEZ4) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The record also includes variant effect predictions and population frequency data.
P12S (p.Pro12Ser) variant details
- p.Pro12Ser
- cosmic curated COSV51504
- gnomAD rs1468886245
- Uncertain significance
- not specified
- Missense
- REVEL 0.16
- CADD 20.30
- PolyPhen-2 0.01
- SIFT 0.05
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 3.1e-05)